Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3184504
SH2B3 ; ATXN2
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
rs699947
VEGFA
0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv 62
rs833061
VEGFA
0.605 0.600 6 43769749 upstream gene variant C/G;T snv 42
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 33
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs11066188
HECTD4
0.851 0.320 12 112172910 intron variant G/A;C snv 0.30; 4.1E-06 7
rs1556165162
HDAC8
0.882 0.120 X 72572657 frameshift variant GG/- delins 7
rs28939668
JAG1
0.807 0.200 20 10652533 missense variant C/T snv 6
rs804280
GATA4
0.882 0.120 8 11755189 intron variant C/A;G snv 6
rs115099192
GATA4
0.827 0.080 8 11758366 missense variant C/A;G snv 5.1E-04; 6.8E-05 5
rs121908601
ZFPM2
0.851 0.080 8 105419192 missense variant A/C;G snv 4.0E-06; 2.7E-03 4
rs187043152
ZFPM2 ; ZFPM2-AS1
0.851 0.080 8 105801714 missense variant G/A;T snv 3.4E-03; 4.0E-06 4
rs56208331
GATA4
0.925 0.080 8 11758419 missense variant G/A;T snv 2.0E-03 4
rs121908603
ZFPM2-AS1 ; ZFPM2
0.882 0.120 8 105802189 missense variant A/C;G snv 4.9E-04; 4.0E-06 3
rs121918351
JAG1
0.882 0.240 20 10658611 missense variant C/T snv 3
rs1554034812
NIPBL
0.925 0.240 5 37058938 frameshift variant G/- delins 3
rs387906818
GATA6
0.882 0.120 18 22181516 missense variant C/T snv 3
rs104893905
NKX2-5
0.925 0.080 5 173232898 missense variant G/A snv 4.4E-06 2
rs139365823
MIR138-2
0.925 0.080 16 56858519 non coding transcript exon variant G/A;C;T snv 4.1E-06; 2.9E-05 2
rs145895196
JAG1
0.925 0.120 20 10641566 missense variant C/A;T snv 1.6E-05; 1.9E-03 2
rs1569484124
ATP8 ; COX2 ; COX1 ; ATP6
0.925 0.080 MT 6925 frameshift variant C/- delins 2
rs201442000
NKX2-5
0.925 0.080 5 173235019 missense variant T/C;G snv 1.3E-04; 4.1E-06 2
rs372187772
PRODH ; DGCR6
1.000 0.080 22 18913477 stop gained G/A;C snv 9.8E-06; 4.9E-06 2
rs864321699
GATA4
1.000 0.080 8 11708337 missense variant G/A;C snv 2